Doç. Dr. GÜLAY CEYLANER

1. Neonatal Aicardi–Goutières syndrome presenting with macrophage activation syndrome-like hyperinflammation and severe congenital glaucoma: a case report

Konak M., Bozkurt B., CEYLANER G., Cüceoğlu M. K., Özdemir F. M. A., Kara B., et al.

Pediatric Rheumatology , cilt.24, sa.1, 2026 (SCI-Expanded, Scopus)

2. The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS

Kllavuz S., Bulut D., KOR D., Şeker-Yllmaz B., ÖZCAN N., İNCECİK F., et al.

Neuropediatrics , cilt.52, sa.5, ss.358-369, 2021 (SCI-Expanded, Scopus)

3. Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins

Kaya T. B., AYDEMİR Ö., CEYLANER S., Ceylaner G., TEKİN A. N.

European Journal of Medical Genetics , cilt.64, sa.7, 2021 (SCI-Expanded, Scopus)

4. Fabry disease screening in patients with kidney transplant: A single-center study in turkey

Erdogmus S., KUTLAY S., Kumru G., Sendogan D. O., ERTÜRK Ş., KEVEN K., et al.

Experimental and Clinical Transplantation , cilt.18, sa.4, ss.444-449, 2020 (SCI-Expanded, Scopus)

5. Investigation of MKRN3 mutation in patients with familial central precocious puberty

AYCAN Z., Savaş-Erdeve Ş., Çetinkaya S., Kurnaz E., Keskin M., Şahin N. M., et al.

JCRPE Journal of Clinical Research in Pediatric Endocrinology , cilt.10, sa.3, ss.223-229, 2018 (SCI-Expanded, Scopus, TRDizin)

6. Impaired glucose tolerance in fanconi-bickel syndrome: Eight patients with two novel mutations

Şeker-Yılmaz B., Kör D., BULUT F. D., YÜKSEL B., Karabay-Bayazıt A., TOPALOĞLU A. K., et al.

Turkish Journal of Pediatrics , cilt.59, sa.4, ss.434-441, 2017 (SCI-Expanded, Scopus, TRDizin)

7. Congenital Glucose–Galactose Malabsorption in a Turkish Newborn: A Novel Mutation of Na+/Glucose Cotransporter Gene

Atay F. Y., Derme T., Uras N., CEYLANER G., CEYLANER S., Sari F. N., et al.

Digestive Diseases and Sciences , cilt.62, sa.1, ss.280-281, 2017 (SCI-Expanded, Scopus)

8. A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus

Mutlu M. B., Cetinkaya A., Koc N., CEYLANER G., Erguner B., Aydın H., et al.

European Journal of Medical Genetics , cilt.59, sa.11, ss.604-606, 2016 (SCI-Expanded, Scopus)

9. Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

Önenli-Mungan N., KOR D., Karabay-Bayazıt A., Cengiz N., Yavuz S., Noyan A., et al.

Turkish Journal of Pediatrics , cilt.58, sa.4, ss.362-370, 2016 (SCI-Expanded, Scopus, TRDizin)

10. Ring chromosome 9 in a newborn

Aldemir O., Celik I., Karaer K., CEYLANER G.

Genetic Counseling , cilt.24, sa.4, ss.357-360, 2013 (SCI-Expanded, Scopus)

11. Prenatal diagnosis of goldenhar syndrome with unusual features by 3D ultrasonography

Guzelmansur I., CEYLANER G., CEYLANER S., CEYLAN N., Daplan T.

Genetic Counseling , cilt.24, sa.3, ss.319-325, 2013 (SCI-Expanded, Scopus)

12. Nephron-sparing surgery for renal cell carcinoma of the allograft after renal transplantation: Report of two cases

TÜZÜNER A., Çakir F., AKYOL C., Çelebi Z., CEYLANER S., CEYLANER G., et al.

Transplantation Proceedings , cilt.45, sa.3, ss.958-960, 2013 (SCI-Expanded, Scopus)

13. New mutation identified in the SRY gene high mobility group (HMG) Sry genı high mobility group (HMG) bölges ınde tanimlanan yenı mutasyon

Şahin F. i., Esi S., CEYLANER G., Emin E. K., Enver O. Ö., Terzi Y. K., et al.

Turk Jinekoloji ve Obstetrik Dernegi Dergisi , cilt.10, sa.2, ss.118-121, 2013 (ESCI, Scopus, TRDizin)

14. A new family with autosomal dominant porencephaly with a novel COL4A1 mutation. Are arachnoid cysts related to COL4A1 mutations?

Deǧerliyurt A., CEYLANER G., Koçak H., Bilginer Gürbüz B., Cihan B., Rizzu P., et al.

Genetic Counseling , cilt.23, sa.2, ss.185-193, 2012 (SCI-Expanded, Scopus)

15. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Kalb S., ÇAĞLAYAN A. O., Degerliyurt A., Schmid S., CEYLANER S., HATİPOĞLU N., et al.

Clinical Genetics , cilt.81, sa.6, ss.598-601, 2012 (SCI-Expanded, Scopus)

16. Ovulation induction with gonadotropins causes increased sister chromatid exchanges

Tonguç E., CEYLANER G., Var T., Zülfikaroǧlu E., CEYLANER S.

Genetic Counseling , cilt.22, sa.2, ss.193-198, 2011 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. A child with XYY karyotype and epilepsy

Deǧerliyurt A., CEYLANER G., CEYLANER S.

Journal of Pediatric Neurology , cilt.9, sa.2, ss.255-258, 2011 (ESCI, Scopus)

18. A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome

Senel S., CEYLANER S., CEYLANER G., Hanli Sahin A., Andrieux J., Delaunoy J.

Genetic Counseling , cilt.22, sa.1, ss.21-24, 2011 (SCI-Expanded, Scopus)

19. Vascular endothelial growth factor +405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women

Altinkaya S. O., Ugur M., CEYLANER G., Ozat M., Gungor T., CEYLANER S.

Archives of Gynecology and Obstetrics , cilt.283, sa.2, ss.267-272, 2011 (SCI-Expanded, Scopus)

20. Partial trisomy due to a de novo duplication 22q11.1-22q13.1: A cat-eye syndrome variant with brain anomalies

Karcaaltincaba D., CEYLANER S., CEYLANER G., Dalkilic S., Karli-Oguz K., Kandemr O.

Genetic Counseling , cilt.21, sa.1, ss.19-24, 2010 (SCI-Expanded, Scopus)

21. Familial primary carpal tunnel syndrome with possible skipped generation.

Senel S., CEYLANER G., Yuksel D., Erkek N., KARACAN C. D.

European journal of pediatrics , cilt.169, sa.4, ss.453-455, 2010 (SCI-Expanded, Scopus)

22. Genetic abnormalities in Turkish women with premature ovarian failure

CEYLANER G., Altinkaya S. O., Mollamahmutoglu L., CEYLANER S.

International Journal of Gynecology and Obstetrics , cilt.110, sa.2, ss.122-124, 2010 (SCI-Expanded, Scopus)

23. Prenatally diagnosed partial trisomy 3q case with an omphalocele and less severe phenotype Prenatal tanısı konulmuş, omfalosel ve hafif fenotipik anormalliklere sahip kısmi trizomi 3q olgusu

Arikan D. C., Coşkun A., Arikan I., Kiran G., CEYLANER G.

Journal of the Turkish German Gynecology Association , cilt.11, sa.4, ss.228-232, 2010 (ESCI, Scopus, TRDizin)

24. Mitral valve prolapse in two siblings with pyknodysostosis

Senel S., KARACAN C. D., Orun U., Erkek N., CEYLANER G.

Genetic Counseling , cilt.20, sa.4, ss.397-401, 2009 (SCI-Expanded, Scopus)

25. A prenatally diagnosed pentalogy of cantrell case with encephaloce: A rare variant Prenatal tanisi konmuş Cantrell Pentaloji̇si̇olgusu: Ensefaloseli̇n eşli̇k etti̇ǧi̇nadi̇r ḃir varyant

Güven M. A., CEYLANER G., CEYLANER S., Coşkun A., Bayazit H.

Turk Jinekoloji ve Obstetrik Dernegi Dergisi , cilt.6, sa.2, ss.123-127, 2009 (Scopus, TRDizin)

26. Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray

CEYLANER S., CEYLANER G., Altun M., Coşkun A., Danişman N.

Genetic Counseling , cilt.20, sa.2, ss.189-193, 2009 (SCI-Expanded, Scopus)

27. Prenatal diagnosis of a case probably with oral-facial-digital syndrome - Gabrielli type

Güven M., CEYLANER G., CEYLANER S., ÜZEL M., Coskun A.

Genetic Counseling , cilt.20, sa.2, ss.167-172, 2009 (SCI-Expanded, Scopus)

28. A boy with trisomy 13 presenting with a subtle clinical picture and metopic synostosis

ÜNAL S., Celik F. C., Soy D., CEYLANER S., Ceylaner G.

American Journal of Medical Genetics, Part A , cilt.149, sa.7, ss.1608-1609, 2009 (SCI-Expanded, Scopus)

29. Frontonasal dysplasia: A family presenting autosomal dominant inheritance pattern

Koçak H., CEYLANER G.

Genetic Counseling , cilt.20, sa.1, ss.63-68, 2009 (SCI-Expanded, Scopus)

30. A prenatally diagnosed case of sirenomelia with polydactyly and vestigial tail

Guven M., ÜZEL M., CEYLANER S., Coskun A., CEYLANER G., Gungoren A.

Genetic Counseling , cilt.19, sa.4, ss.419-424, 2008 (SCI-Expanded, Scopus)

31. Azoospermia and cryptorchidism in a male with a de novo reciprocal t(Y;16) translocation

Gunel M., Cavkaytar S., CEYLANER G., Batioglu S.

Genetic Counseling , cilt.19, sa.3, ss.277-280, 2008 (SCI-Expanded, Scopus)

32. Neu-Laxova syndrome in an appropriate for gestational age newborn

Dilli D., Yaşar H., Dilmen U., CEYLANER G.

Indian Journal of Dermatology, Venereology and Leprology , cilt.74, sa.5, ss.487-489, 2008 (SCI-Expanded, Scopus)

33. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals

Baysal E., Bayazit Y., CEYLANER S., Alatas N., Donmez B., CEYLANER G., et al.

Journal of Genetics , cilt.87, sa.1, ss.53-57, 2008 (SCI-Expanded, Scopus)

34. Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family Bir ailenin 16 üyesinde otozomal dominant kalıtım gösteren gelişimsel kalça çıkıǧı

CEYLANER G., CEYLANER S., Ustunkan F., Inan M.

Acta Orthopaedica et Traumatologica Turcica , cilt.42, sa.4, ss.289-291, 2008 (SCI-Expanded, Scopus, TRDizin)

35. Chromosomal heteromorphisms may help for the diagnosis of uniparental disomy (UPD): A case report

CEYLANER G., CEYLANER S., Danişman N., Ergün A., Ekici E., Schinzel A., et al.

Prenatal Diagnosis , cilt.27, sa.11, ss.1072-1074, 2007 (SCI-Expanded, Scopus)

36. Evaluation of 2407 fetuses in a Turkish population

CEYLANER G., CEYLANER S., Günyeli I., Ekici E., Celasun B., Danişman N.

Prenatal Diagnosis , cilt.27, sa.9, ss.800-807, 2007 (SCI-Expanded, Scopus)

37. Prenatal diagnosis of a Turkish Bartsocas-Papas syndrome case with upper limb pterigia

CEYLANER G., Güven M. A., CEYLANER S., ÜZEL M., Müftüoǧlu K.

Prenatal Diagnosis , cilt.27, sa.6, ss.563-565, 2007 (SCI-Expanded, Scopus)

38. Prenatal diagnosis of Meckel Gruber syndrome presenting with renal agenesis: report of a case.

Guven M., CEYLANER S., CEYLANER G., Gul D., Ertas L.

Genetic counseling (Geneva, Switzerland) , cilt.17, sa.1, ss.65-68, 2006 (SCI-Expanded, Scopus)

39. Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion

Bagislar S., Ustuner I., Cengiz B., Soylemez F., Akyerli C. B., CEYLANER S., et al.

Australian and New Zealand Journal of Obstetrics and Gynaecology , cilt.46, sa.5, ss.384-387, 2006 (SCI-Expanded, Scopus)

40. An infant with diaphragmatic hernia, anophthalmia and cardiac defect: Evaluation by magnetic resonance imaging autopsy

CEYLANER S., Gozer H., CEYLANER G., Ertas I., Kizilates S., Edguer T.

Genetic Counseling , cilt.17, sa.2, ss.231-236, 2006 (SCI-Expanded, Scopus)

41. Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: Detection of associated anomalies in a Turkish population

CEYLANER S., CEYLANER G., Günyeli I., Ekici E., Tuǧ M., Taner D., et al.

Prenatal Diagnosis , cilt.26, sa.2, ss.147-153, 2006 (SCI-Expanded, Scopus)

42. A case of fetal anticonvulsant syndrome with severe bilateral upper limb defect

Guven M. A., Batukan C., CEYLANER S., CEYLANER G., ÜZEL M.

Journal of Maternal-Fetal and Neonatal Medicine , cilt.19, sa.2, ss.115-117, 2006 (SCI-Expanded, Scopus)

43. Volume of sampled amniotic fluid and prenatal cytogenetic diagnosis

Guven M., CEYLANER G., Coskun A.

International Journal of Gynecology and Obstetrics , cilt.95, sa.2, ss.157-158, 2006 (SCI-Expanded, Scopus)

44. A case with dextrocardia and multiple cardiac anomalies in a family with congenital heart malformations

CEYLANER S., Güven M. A., CEYLANER G., Çiragil G., Tuǧ M., Ertaş I. E.

Journal of the Turkish German Gynecology Association , cilt.6, sa.2, ss.158-160, 2005 (ESCI, Scopus, TRDizin)

45. Craniosynostosis and ectopia lentis in a propositus whose parents are cousins [4]

Güven D., Kalayci D., Hasiripi H., CEYLANER S., CEYLANER G.

American Journal of Medical Genetics , cilt.134 A, sa.2, ss.231, 2005 (SCI-Expanded, Scopus)

46. A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an ehlers-danlos VIA patient

Walker L. C., Overstreet M. A., Siddiqui A., De Paepe A., CEYLANER G., Malfait F., et al.

Journal of Investigative Dermatology , cilt.124, sa.5, ss.914-918, 2005 (SCI-Expanded, Scopus)

Yayınlar & Eserler

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Yayın (Scopus)

Atıf (WoS)

H-İndeks (WoS)

Atıf (Scopus)

H-İndeks (Scopus)

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